Incidental Mutation 'R9359:Slc5a7'
ID 708602
Institutional Source Beutler Lab
Gene Symbol Slc5a7
Ensembl Gene ENSMUSG00000023945
Gene Name solute carrier family 5 (choline transporter), member 7
Synonyms CHT1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9359 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 54580618-54606062 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54583669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 540 (N540K)
Ref Sequence ENSEMBL: ENSMUSP00000093379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095712]
AlphaFold Q8BGY9
Predicted Effect probably benign
Transcript: ENSMUST00000095712
AA Change: N540K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000093379
Gene: ENSMUSG00000023945
AA Change: N540K

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:SSF 42 442 4.7e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null mice display neonatal lethality with respiratory failure, hyporesponsiveness to touch, inability to sustain acetylcholine release, and abnormal neuromuscular junction morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 C T 2: 151,780,892 (GRCm39) T380M probably damaging Het
Ankrd50 A T 3: 38,537,172 (GRCm39) N60K probably damaging Het
Atp6v0a4 G A 6: 38,059,048 (GRCm39) T245I probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Cyp2j13 T C 4: 95,950,170 (GRCm39) D277G probably damaging Het
Def8 A T 8: 124,185,105 (GRCm39) I310F probably benign Het
Dmtf1 A G 5: 9,171,927 (GRCm39) L503S possibly damaging Het
Dock1 T C 7: 134,770,125 (GRCm39) V1795A probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Gabbr1 A G 17: 37,381,605 (GRCm39) T790A probably damaging Het
Glg1 C T 8: 111,914,425 (GRCm39) R453Q probably benign Het
Gm10549 C T 18: 33,597,375 (GRCm39) P54S unknown Het
Gpld1 G A 13: 25,163,712 (GRCm39) V502I probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Inhba A G 13: 16,191,966 (GRCm39) H29R probably benign Het
Insr G C 8: 3,208,717 (GRCm39) P1248R probably damaging Het
Ipcef1 C T 10: 6,840,663 (GRCm39) D349N probably damaging Het
Itga4 T A 2: 79,156,004 (GRCm39) I990N possibly damaging Het
Malrd1 T C 2: 15,618,988 (GRCm39) V284A Het
Maml2 C T 9: 13,532,969 (GRCm39) Q728* probably null Het
Mex3d A T 10: 80,217,581 (GRCm39) N545K Het
Mios T A 6: 8,214,894 (GRCm39) V30E probably benign Het
Muc16 A G 9: 18,449,060 (GRCm39) probably null Het
Naxd A G 8: 11,562,968 (GRCm39) K303E possibly damaging Het
Or2w1 T C 13: 21,317,865 (GRCm39) F307L probably benign Het
Or4l1 T C 14: 50,166,906 (GRCm39) T32A probably benign Het
Or5a21 T A 19: 12,310,803 (GRCm39) H139L possibly damaging Het
Or9q2 C T 19: 13,772,200 (GRCm39) M258I probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pknox1 C T 17: 31,822,229 (GRCm39) T332M possibly damaging Het
Ptgdr A G 14: 45,090,715 (GRCm39) S348P Het
Ptpdc1 T A 13: 48,740,030 (GRCm39) E467V probably benign Het
Qsox1 A G 1: 155,658,343 (GRCm39) S409P probably damaging Het
Rfx4 A G 10: 84,740,921 (GRCm39) T680A probably benign Het
Slc30a5 T C 13: 100,949,970 (GRCm39) T371A probably damaging Het
Slco6c1 A T 1: 96,990,248 (GRCm39) S664R possibly damaging Het
Tbxa2r A G 10: 81,168,958 (GRCm39) S216G probably damaging Het
Tgm4 C A 9: 122,881,837 (GRCm39) S344R probably damaging Het
Thoc6 A G 17: 23,887,823 (GRCm39) V328A possibly damaging Het
Trim61 T A 8: 65,467,228 (GRCm39) Q11L probably damaging Het
Txndc2 G A 17: 65,944,992 (GRCm39) T395I probably damaging Het
Txndc9 T C 1: 38,034,859 (GRCm39) E15G probably benign Het
Unc93a2 G T 17: 7,641,842 (GRCm39) T202K probably damaging Het
Uspl1 G A 5: 149,146,481 (GRCm39) V411M probably damaging Het
Vcpip1 A G 1: 9,816,049 (GRCm39) I778T possibly damaging Het
Vps54 A G 11: 21,242,108 (GRCm39) T408A probably benign Het
Wscd1 T C 11: 71,650,799 (GRCm39) L42P possibly damaging Het
Other mutations in Slc5a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Slc5a7 APN 17 54,599,988 (GRCm39) missense probably benign 0.00
IGL01833:Slc5a7 APN 17 54,588,861 (GRCm39) missense probably damaging 1.00
IGL02206:Slc5a7 APN 17 54,604,022 (GRCm39) missense probably damaging 0.98
IGL02493:Slc5a7 APN 17 54,600,908 (GRCm39) missense probably damaging 1.00
IGL02598:Slc5a7 APN 17 54,591,221 (GRCm39) missense probably benign
IGL02693:Slc5a7 APN 17 54,583,947 (GRCm39) missense probably benign 0.00
IGL02896:Slc5a7 APN 17 54,600,045 (GRCm39) nonsense probably null
R0288:Slc5a7 UTSW 17 54,600,046 (GRCm39) nonsense probably null
R1137:Slc5a7 UTSW 17 54,600,039 (GRCm39) missense probably damaging 1.00
R1692:Slc5a7 UTSW 17 54,588,754 (GRCm39) missense probably damaging 0.99
R1755:Slc5a7 UTSW 17 54,600,006 (GRCm39) missense probably benign 0.01
R1987:Slc5a7 UTSW 17 54,600,863 (GRCm39) missense probably damaging 1.00
R2373:Slc5a7 UTSW 17 54,584,154 (GRCm39) missense probably damaging 1.00
R4170:Slc5a7 UTSW 17 54,583,886 (GRCm39) missense probably benign 0.08
R4614:Slc5a7 UTSW 17 54,583,587 (GRCm39) missense probably benign 0.00
R4785:Slc5a7 UTSW 17 54,585,728 (GRCm39) missense probably damaging 1.00
R4793:Slc5a7 UTSW 17 54,588,822 (GRCm39) missense possibly damaging 0.95
R4828:Slc5a7 UTSW 17 54,583,827 (GRCm39) missense probably benign 0.11
R4847:Slc5a7 UTSW 17 54,584,168 (GRCm39) missense possibly damaging 0.82
R4879:Slc5a7 UTSW 17 54,583,679 (GRCm39) missense probably benign 0.04
R5152:Slc5a7 UTSW 17 54,585,861 (GRCm39) missense possibly damaging 0.51
R5171:Slc5a7 UTSW 17 54,583,704 (GRCm39) missense probably benign
R5196:Slc5a7 UTSW 17 54,588,750 (GRCm39) critical splice donor site probably null
R5935:Slc5a7 UTSW 17 54,583,972 (GRCm39) nonsense probably null
R6307:Slc5a7 UTSW 17 54,584,006 (GRCm39) missense probably benign 0.12
R6354:Slc5a7 UTSW 17 54,584,061 (GRCm39) missense probably damaging 1.00
R6357:Slc5a7 UTSW 17 54,594,389 (GRCm39) missense probably benign 0.33
R6395:Slc5a7 UTSW 17 54,585,849 (GRCm39) missense probably damaging 1.00
R6500:Slc5a7 UTSW 17 54,591,231 (GRCm39) missense probably benign
R6643:Slc5a7 UTSW 17 54,583,644 (GRCm39) missense probably benign 0.00
R7062:Slc5a7 UTSW 17 54,600,029 (GRCm39) missense probably damaging 1.00
R7405:Slc5a7 UTSW 17 54,604,161 (GRCm39) missense probably benign
R7470:Slc5a7 UTSW 17 54,583,990 (GRCm39) nonsense probably null
R7477:Slc5a7 UTSW 17 54,588,787 (GRCm39) missense probably damaging 1.00
R7942:Slc5a7 UTSW 17 54,583,709 (GRCm39) missense possibly damaging 0.69
R8348:Slc5a7 UTSW 17 54,583,655 (GRCm39) missense possibly damaging 0.62
R8928:Slc5a7 UTSW 17 54,591,258 (GRCm39) missense possibly damaging 0.84
R9082:Slc5a7 UTSW 17 54,604,139 (GRCm39) missense probably benign 0.00
R9192:Slc5a7 UTSW 17 54,594,389 (GRCm39) missense probably benign 0.33
R9403:Slc5a7 UTSW 17 54,583,669 (GRCm39) missense probably benign 0.01
R9722:Slc5a7 UTSW 17 54,603,985 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTCCAGTACTACCCTACAGCAATG -3'
(R):5'- GCCATATCTATACTTGCAGCCC -3'

Sequencing Primer
(F):5'- ACAGCAATGCCCTCTTCTG -3'
(R):5'- ACCCTGGTTATTACTCTGACAAG -3'
Posted On 2022-04-18